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Focal dermal hypoplasia

disorder
SNOMED 205573006CUI C0016395

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

3-4 finger cutaneous syndactyly
Always present (100%)HP:0011939
Focal dermal aplasia/hypoplasia
Always present (100%)HP:0007510
Hypopigmentation of the skin
Always present (100%)HP:0001010
Hypoplastic fourth metacarpal
Always present (100%)HP:0010044
Longitudinal ridging
Always present (100%)HP:0001807
Abnormal nail morphology
Very frequent (80-99%)HP:0001597
Abnormal palmar dermatoglyphics
Very frequent (80-99%)HP:0001018
Abnormal skin colour
Very frequent (80-99%)HP:0001000
Abnormality of the middle ear
Very frequent (80-99%)HP:0000370
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Coarse metaphyseal trabecularization
Very frequent (80-99%)HP:0100670
Dental agenesis
Very frequent (80-99%)HP:0009804
Dystrophic tooth enamel
Very frequent (80-99%)HP:0000682
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Foot ectrodactyly
Very frequent (80-99%)HP:0001839
Hernia
Very frequent (80-99%)HP:0100790
Hypoacusis
Very frequent (80-99%)HP:0000365
Left and right leg differ in length or width
Very frequent (80-99%)HP:0100559
Low-set ears
Very frequent (80-99%)HP:0000369
Misshapened teeth
Very frequent (80-99%)HP:0006482
Papilloma
Very frequent (80-99%)HP:0012740
Partial syndactyly
Very frequent (80-99%)HP:0006101
Polydactyly of the hand
Very frequent (80-99%)HP:0001161
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Skin degeneration
Very frequent (80-99%)HP:0004334
Split hand
Very frequent (80-99%)HP:0001171
Syndactyly of feet
Very frequent (80-99%)HP:0001770
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Thin skin
Very frequent (80-99%)HP:0000963

Related Conditions

Congenital anomaly of skin(parent)
Multiple system malformation syndrome(parent)
Hereditary disorder of the integument(parent)
Developmental hereditary disorder(parent)
X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT
205573006
UMLS CUI
C0016395
Fully Specified Name
Focal dermal hypoplasia (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.